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B

Bals-Pratsch, M. and Hehr, A. and Seifert, B. and Hehr, U. (2009) Birth Following Vitrification of Oocytes and Polar Body Diagnosis for Cystic Fibrosis. GEBURTSHILFE UND FRAUENHEILKUNDE, 69 (6). pp. 541-544. ISSN 0016-5751, 1438-8804

Bosse, K. and Faust, U. and Gruber, I. and Habhab, W. and Guenther, G. and Siebers-Renelt, U. and Kiechle, M. and Speiser, D. and Dikow, N. and Kast, K. and Arnold, N. and Vesper, A.-S. and Harbeck, N. and Briest, S. and Thomssen, C. and Gehrig, A. and Wallaschek, H. and Solbach, C. and Wolf, M. and Witzel, I. and Holzhauser, I. and Kaulfuss, S. and Janni, W. and Engel, C. and Riess, O. and Schmutzler, R. and Schroeder, C. (2020) Clinical-pathological Characterization of 1078 Advice Seekers with pathogenic CHEK2 Mutation from the German Consortium of Familial Breast and Ovarian Cancer (DK-FBREK). In: 40. Jahrestagung der Deutschen Gesellschaft für Senologie e.V., 25.-27.06.2020, Congress Center München.

Brandl, Caroline and Weber, Bernhard H. F. (2018) Personalized Ophthalmology - Induced Pluripotent Stem Cells for In Vitro Modelling of Retinal Degenerative Diseases. KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE, 235 (3). pp. 301-308. ISSN 0023-2165, 1439-3999

D

Dittrich, Ralf and Kliesch, Sabine and Schuering, Andreas and Balcerek, Magdalena and Baston-Buest, Dunja M. and Beck, Ramona and Beckmann, Matthias W. and Behringer, Karolin and Borgmann-Staudt, Anja and Cremer, Wolfgang and Denzer, Christian and Diemer, Thorsten and Dorn, Almut and Fehm, Tanja and Gaase, Ruediger and Germeyer, Ariane and Geue, Kristina and Ghadjar, Pirus and Goeckenjan, Maren and Goette, Martin and Guth, Dagmar and Hauffa, Berthold P. and Hehr, Ute and Hetzer, Franc and Hirchenhain, Jens and Hoffmann, Wilfried and Hornemann, Beate and Jantke, Andreas and Kentenich, Heribert and Kiesel, Ludwig and Koehn, Frank-Michael and Korell, Matthias and Lax, Sigurd and Liebenthron, Jana and Lux, Michael and Meissner, Julia and Micke, Oliver and Nassar, Najib and Nawroth, Frank and Nordhoff, Verena and Ochsendorf, Falk and Oppelt, Patricia G. and Pelz, Joerg and Rau, Beate and Reisch, Nicole and Riesenbeck, Dorothea and Schlatt, Stefan and Sender, Annekathrin and Schwab, Roxana and Siedentopf, Friederike and Thorn, Petra and Wagner, Steffen and Wildt, Ludwig and Wimberger, Pauline and Wischmann, Tewes and von Wolff, Michael and Lotz, Laura (2018) Fertility Preservation for Patients with Malignant Disease. Guideline of the DGGG, DGU and DGRM (S2k-Level, AWMF Registry No. 015/082, November 2017) - Recommendations and Statements for Girls and Women. GEBURTSHILFE UND FRAUENHEILKUNDE, 78 (6). pp. 567-583. ISSN 0016-5751, 1438-8804

E

Ebenrett, I. and Koerber, F. and Gabriel, H. and Hehr, U. and Heller, R. and Hoopmann, Markus (2009) Targeted Genetic Diagnosis After First Trimester Ultrasound for Lethal Fetal Skeletal Dysplasia. GEBURTSHILFE UND FRAUENHEILKUNDE, 69 (3). pp. 244-247. ISSN 0016-5751, 1438-8804

F

Fastenmeier, C. and Schnabel, A. and Hehr, U. and Koeninger, A. (2023) Case Presentation Opitz G/BBB Syndrome Type I(heterozygous). In: Gemeinsamer Kongress der Bayerischen Gesellschaft für Geburtshilfe und Frauenheilkunde (BGGF) und der Österreichischen Gesellschaft für Gynäkologie und Geburtshilfe (OEGGG) 2023, 23.–24.06.2023, Würzburg.

H

Hehr, U. and Schoenbuchner, I. and Weber, B. H. F. (2014) Human genetic diagnostics in gynecological practice. GEORG THIEME VERLAG KG, STUTTGART.

Hehr, U. and Schuierer, G. (2011) Genetic Assessment of Cortical Malformations. NEUROPEDIATRICS, 42 (2). pp. 43-50. ISSN 0174-304X

J

Judas, M. and Sedmak, G. and Rados, M. and Sarnavka, V. and Fumic, K. and Willer, T. and Gross, C. and Hehr, U. and Strahl, S. and Cuk, M. and Baric, I. (2009) POMT1-Associated Walker-Warburg Syndrome: A Disorder of Dendritic Development of Neocortical Neurons. NEUROPEDIATRICS, 40 (1). pp. 6-14. ISSN 0174-304X, 1439-1899

K

Karlstetter, M. and Langmann, T. (2012) Immune Mechanisms in Retinal Degeneration. KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE, 229 (3). pp. 221-226. ISSN 0023-2165, 1439-3999

Kellner, U. and Kellner, S. and Renner, A. B. and Fiebig, B. S. and Weinitz, S. and Weber, B. H. F. (2009) Evidence-Based Diagnostic Approach to Inherited Retinal Dystrophies 2009. KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE, 226 (12). pp. 999-1011. ISSN 0023-2165

Kellner, U. and Kellner, S. and Weinitz, S. and Farmand, G. and Weber, B. H. F. and Stoehr, H. (2015) Inherited Retinal or Optic Nerve Disorders - Five Steps to Diagnosis. KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE, 232 (3). pp. 250-258. ISSN 0023-2165, 1439-3999

Kellner, U. and Renner, A. B. and Herbst, S. M. and Kellner, S. and Weinitz, S. and Weber, B. H. F. (2012) Ophthalmology up2date. KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE, 229 (2). 170-+. ISSN 0023-2165

M

Meyer, Sascha and Struffert, T. and Uyanik, Goekhan and Oehl-Jaschkowitz, B. and Hehr, U. and Shamdeen, M. G. (2005) Congenital muscular dystrophies: Muscle-eye-brain disease. KLINISCHE PADIATRIE, 217 (2). pp. 68-69. ISSN 0300-8630

Milenkovic, Andrea and Brandl, Caroline and Nachtigal, Anna-Lena and Kellner, Ulrich and Weber, Bernhard H. F. (2020) Mutation-Dependent Mechanisms and Their Impact on Targeted Therapeutic Strategies with Reference to Bestrophin 1 and the Bestrophinopathies. KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE, 237 (3). pp. 259-266. ISSN 0023-2165, 1439-3999

O

Olmez, A. and Uyanik, G. and Ozgul, R. K. and Gross, C. and Cirak, S. and Elibol, B. and Anlar, B. and Winner, B. and Hehr, U. and Topaloglu, H. and Winkler, Juergen (2006) Further clinical and genetic characterization of SPG11: Hereditary spastic paraplegia with thin corpus callosum. NEUROPEDIATRICS, 37 (2). pp. 59-66. ISSN 0174-304X

P

Proepper, Christiane R. and Schuetz, Sofia M. and Schwarz, Lisa-Maria and von Au, Katja and Bast, Thomas and Beaud, Nathalie and Borggraefe, Ingo and Bosch, Friedrich and Budde, Joerg and Busse, Melanie and Chung, Jena and Debus, Otfried and Diepold, Katharina and Fries, Thomas and von Gersdorff, Gero and Haeussler, Martin and Hahn, Andreas and Hartlieb, Till and Heiming, Ralf and Herkenrath, Peter and Kluger, Gerhard and Kreth, Jonas H. and Kurlemann, Gerhard and Moeller, Peter and Morris-Rosendahl, Deborah J. and Panzer, Axel and Philippi, Heike and Ruegner, Sophia and Toepfer, Carolina and Vieker, Silvia and Wiemer-Kruel, Adelheid and Winter, Anika and Schuierer, Gerhard and Hehr, Ute and Geis, Tobias (2024) Characterization of the Epileptogenic Phenotype and Response to Antiseizure Medications in Lissencephaly Patients. NEUROPEDIATRICS, 55 (06). pp. 410-419. ISSN 0174-304X, 1439-1899

R

Rudnik-Schoeneborn, S. and Hehr, U. and von Kalle, T. and Bornemann, A. and Winkler, J. and Zerres, K. (2009) Andermann Syndrome can be a Phenocopy of Hereditary Motor and Sensory Neuropathy - Report of a Discordant Sibship with a Compound Heterozygous Mutation of the KCC3 Gene. NEUROPEDIATRICS, 40 (3). pp. 129-133. ISSN 0174-304X